Table 4 Relationship between clinical characteristics and different mutation types (helical mutation vs. haploinsufficiency) in COL1A1 and COL1A2 of 71 patients with OI at the time of bone densitometry analysis
From: Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta
Helical mutation (n = 29) | Haploinsufficiency (n = 42) | p value | |
|---|---|---|---|
OI Type (I/III/IV) | 9/4/16 | 33/1/8 | <0.001 |
COL1A1/COL1A2 mutation | 9/20 | 42/0 | <0.001 |
Gender (M/F) | 12/17 | 15/27 | 0.635 |
Age (years) | 21.8 ± 17.1 | 21.4 ± 17.0 | 0.941 |
Height SDS | −2.93 ± 3.04 | −0.61 ± 1.61 | <0.001 |
Weight SDS | −1.29 ± 1.67 | −0.55 ± 1.44 | <0.05 |
BMD SDS | −2.73 ± 1.96 (n = 24) | −1.70 ± 1.25 (n = 40) | <0.05 |
Triangular face | 21 % | 17 % | 0.672 |
Blue sclera | 83 % | 95 % | 0.085 |
Dentinogenesis imperfecta | 62 % | 31 % | <0.01 |
Hearing loss | 17 % | 21 % | 0.668 |
Fracture at birth | 14 % | 5 % | 0.184 |
Bone deformity | 69 % | 50 % | 0.115 |
Scoliosis | 52 % | 26 % | <0.05 |
Walking without assistance | 76 % (n = 25) | 98 % | <0.01 |